A48A (p.Ala48Ala) variant of TRPM4 (Q8TD43)
A48A (p.Ala48Ala) in TRPM4 (Q8TD43) is a synonymous change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.10 / 1. The record also includes population frequency data, published literature, and structural context.
A48A (p.Ala48Ala) variant details
- p.Ala48Ala
- rs759383683
- gnomAD 19-49166092-C-T
- Synonymous
- Variant Prioritization Score for Impact Estimate 0.102
- CADD 3.00
- Population evidence available
- Structural context available
- Literature evidence available